AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
Abstract publication Basic research

AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4

Qi Yao, Liu Wang, Bing Yao, Hongliu Gao, Weiwei Li, Xinyi Xia, Qinghua Shi, Yingxia Cui

The Institute of Reproductive Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China

Background: Ring chromosomes are often associated with spermatogenetic failure. However, the mechanism is poorly understood. We here reported a single man with severe oligospermia and a ring chromosome 4 with a microdeletion at 4p16.3.

Methods: Synapsis (asSCP3), recombination (as MLH1) and transcriptional inactivation (as BRCA1) in a testicular biopsy were examined by fluorescence immunostaining.

Results: In the oligospermia patient, 35.4% of spermatocytes were in zygotene phase compared with 5.2% in controls. The patient had a significantly reduced recombination frequency with mean of 45.9 MLH1 foci/cell compared with 47.8 in controls. In the patient, chromosome 4 in all pachytene cells displayed loop formation with varying degrees of unpaired regions. BRCA1 localized along asynapsed regions regardless of XY body association.

Conclusions: Ring chromosome 4 might affect the progression of meiosis I prophase, synapse formation, and transcriptional activation of asynapsed areas, and impair male fertility.

Keywords: Ring chromosome 4; oligospermia; synapse complex; recombination; transcriptional inactivation

doi: 10.3978/j.issn.2223-4683.2014.s188

Cite this article as: Yao Q, Wang L, Yao B, Gao H, Li W, Xia X, Shi Q, Cui Y. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. Transl Androl Urol 2014;3(S1):AB188. doi: 10.3978/j.issn.2223-4683.2014.s188

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